Cancer risks are strongly influenced by which MMR gene mutation is present but may also vary substantially between and within families, due to broader influences of the genome and gene–environment interaction. [dovepress.com]

Natera Academy Lynch Short Take 10 minute clinical video presentation with Noelle Goedde, MS, CGC Clinical Case Study Lynch syndrome carrier: PMS2 gene mutation Clinical Case study Lynch syndrome carrier: MSH2 gene mutation Complementary Genetic Info [natera.com]

Version 1 Date Summary of changes 27/04/2018 Developed in conjunction with consumer information sheet working group and presented at the November 2017 Cancer Genetics meeting. Discussions continued over email and document approved for publication. [eviq.org.au]

We acknowledge that penetrance may depend on the MSH6 mutation, the country in which the carrier lives, and other genetic and environmental modifiers of risk; and thus, we have presented the average penetrance of all identified mutations across several [ncbi.nlm.nih.gov]

• Falling

  Hereditary non-polyposis colorectal cancer: the rise and fall of a confusing term. World J Gastroenterol. 2006;12(31):4943–4950. [PMC free article] [PubMed] [Google Scholar] 2. Aarnio M, Sankila R, Pukkala E, et al. [ncbi.nlm.nih.gov]

  […] due to Lynch syndrome.53 When selected for early age of onset, specifically those diagnosed under the age of 40 years, the association with Lynch syndrome may be closer to 4%.54 Reported lifetime risks for ovarian cancer in women with Lynch syndrome fall [dovepress.com]

• Pain

  Endometrial cancer symptoms include abnormal uterine bleeding and pain, which are usually early indicators easily recognized by patients. Patients should be educated to seek medical evaluation if they experience abnormal bleeding. [dovepress.com]

• Pathologist

  […] necessarily distinguishable from sporadic colon and endometrial cancers.36,111 Systematic collection, documentation, and assessment of family history are highly variable among health care providers, and rarely is this information readily available to pathologists [dovepress.com]

• Familial Adenomatous Polyposis

  Historical perspective and evolution of descriptive terms The first colorectal cancer syndrome to be well characterized was called familial adenomatous polyposis (FAP) and was characterized by very early onset, massively prolific development of colorectal [dovepress.com]

• Confusion

  Hereditary non-polyposis colorectal cancer: the rise and fall of a confusing term. World J Gastroenterol. 2006;12(31):4943–4950. [PMC free article] [PubMed] [Google Scholar] 2. Aarnio M, Sankila R, Pukkala E, et al. [ncbi.nlm.nih.gov]

Evidence of MSI suggests further workup to rule out Lynch syndrome. IHC is a demonstration of the presence or absence of MMR proteins in the tumor. [dovepress.com]

• Polyps

  This observation conflicts with the paradigm that removal of all visible polyps should prevent the vast majority of CRC in path_MMR carriers, provided the screening interval is sufficiently short and colonoscopic practice is optimal. [jyu.finna.fi]

  The likelihood of endometrial and ovarian cancer after prophylactic salpingo-oophorectomy is very low.83 Chemoprevention Trials of aspirin have shown promise in reducing polyp burden among individuals with Lynch syndrome. [dovepress.com]

  For persons with a diagnosis of colorectal cancer or polyp not resectable by colonoscopy, subtotal colectomy favored with preferences of the well-informed patient actively elicited (33). [ncbi.nlm.nih.gov]

Treatment is more likely to be successful when the cancer is caught early. Some people with Lynch syndrome might consider treatments to prevent cancer. Lynch syndrome used to be called hereditary nonpolyposis colorectal cancer (HNPCC). [mayoclinic.org]

The ultimate goal of cancer genetic counseling is to empower patients to use their personal risk information to better inform treatment and management decisions and to educate family members on their possible cancer risks. [ironwoodcrc.com]

Surgical treatment of hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome). Fam Cancer. 2013;12(2):295–300. 97. Hampel H, Frankel W, Panescu J, et al. [dovepress.com]

The cancer genetics field is continuously evolving, so updates related to your MSH6 result, medical recommendations, and/or potential treatments may be available over time. [ambrygen.com]

Identifying the underlying molecular etiology led to the realization that Turcot syndrome with colorectal cancer and glioblastoma is due to an MMR deficit. [dovepress.com]

Background Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (path_MMR) variants despite frequent colonoscopy surveillance in expert centres. [jyu.finna.fi]

Surveillance, Epidemiology, and End Results Program (SEER). Cancer Stat Fact Sheets. Bethesda, MD: National Institutes of Health. Available from: http://seer.cancer.gov/statfacts/html/breast.html. Accessed June 12, 2014. [dovepress.com]

Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev. 2007;16(11):2331–2343. [PubMed] [Google Scholar] 22. Lindor NM, Burgart LJ, Leontovich O, et al. [ncbi.nlm.nih.gov]

This information allows for the pursuit of early detection or possibly prevention of certain cancer types. [ironwoodcrc.com]

This observation conflicts with the paradigm that removal of all visible polyps should prevent the vast majority of CRC in path_MMR carriers, provided the screening interval is sufficiently short and colonoscopic practice is optimal. [jyu.finna.fi]

Of those that do, many Lynch syndrome related cancers have high survivability if detected early – some can even be prevented. Genetic test results can improve outcomes by providing access to early and increased screening and risk-reducing options. [natera.com]

Genetic Testing, Screening, and Prevention for People with a Strong Family History of Colorectal Cancer. American Cancer Society. [labtestsonline.it]

Some people with Lynch syndrome might consider treatments to prevent cancer. Lynch syndrome used to be called hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC is a term used to describe families with a strong history of colon cancer. [mayoclinic.org]